MCID: AMY040
MIFTS: 41

Amyotrophic Lateral Sclerosis 10, with or Without Ftd malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Aliases & Descriptions for Amyotrophic Lateral Sclerosis 10, with or Without Ftd:

Name: Amyotrophic Lateral Sclerosis 10, with or Without Ftd 51 12
Amyotrophic Lateral Sclerosis 10 11 47 69 26 67
Amyotrophic Lateral Sclerosis Type 10 11 47 13
Als10 11 47 69
 
Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia and with Tdp43 Inclusions 69
Amyotrophic Lateral Sclerosis 10, with or Without Frontotemporal Dementia 11
Tardbp-Related Frontotemporal Lobar Degeneration with Tdp43 Inclusions 11
Frontotemporal Lobar Degeneration, Tardbp-Related 51

Characteristics:

HPO:

63
amyotrophic lateral sclerosis 10, with or without ftd:
Inheritance: autosomal dominant inheritance
Onset and clinical course: rapidly progressive

Classifications:



External Ids:

OMIM51 612069
Disease Ontology11 DOID:0060201
MeSH38 D000690

Summaries for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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UniProtKB/Swiss-Prot:69 Amyotrophic lateral sclerosis 10: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

MalaCards based summary: Amyotrophic Lateral Sclerosis 10, with or Without Ftd, also known as amyotrophic lateral sclerosis 10, is related to tardbp-related amyotrophic lateral sclerosis and dementia, frontotemporal, and has symptoms including emotional lability, stereotypy and disinhibition. An important gene associated with Amyotrophic Lateral Sclerosis 10, with or Without Ftd is TARDBP (TAR DNA Binding Protein). Affiliated tissues include brain, spinal cord and skeletal muscle.

Disease Ontology:11 An amyotrophic lateral sclerosis that has material basis in mutation in the TARDBP gene on chromosome 1.

Description from OMIM:51 612069

Related Diseases for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Diseases related to Amyotrophic Lateral Sclerosis 10, with or Without Ftd via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1tardbp-related amyotrophic lateral sclerosis11.3
2dementia, frontotemporal10.8
3amyotrophic lateral sclerosis 110.8
4frontotemporal lobar degeneration with ubiquitin-positive inclusions10.8
5subdural empyema10.5FUS, TARDBP
6osteogenesis imperfecta, type vi10.5FUS, TARDBP
7arthrogryposis, lethal, with anterior horn cell disease10.5FUS, TARDBP
8retrograde amnesia10.4FUS, TARDBP
9breast adenoid cystic carcinoma10.4FUS, TARDBP
10fetal alcohol spectrum disorder10.3ALS2, TARDBP
11colon kaposi sarcoma10.3FUS, RBM8A, TARDBP
12pick disease10.3FUS, RBM8A, TARDBP
13mast syndrome10.3ALS2, TARDBP
14nasal cavity inverting papilloma10.2FUS, TARDBP
15neuromyotonia and axonal neuropathy, autosomal recessive10.2FUS, OPTN, TARDBP
16mucopolysaccharidosis iii10.2ALS2, OPTN, TARDBP
17balo concentric sclerosis10.2FUS, TARDBP
18chronic intestinal vascular insufficiency10.1FUS, OPTN, TARDBP
19trench fever10.1PLIN1, SAMHD1
20renal tuberculosis10.0OPTN, SAMHD1
21trochlear nerve neoplasm9.9OPTN, SAMHD1
22anal sphincter dysplasia9.9ALS2, FUS
23hypertropia9.8CYP19A1, SAMHD1
24atrophy of prostate9.4ALS2, ANG, FIG4, FUS, OPTN, TARDBP
25yunis-varon syndrome9.2ALS2, ANG, DAO, FIG4, FUS, OPTN
26retinitis pigmentosa 469.2ALS2, ANG, DAO, FIG4, FUS, OPTN
27specific granule deficiency9.1ALS2, ANG, DAO, FIG4, FUS, OPTN
28amyotrophic lateral sclerosis type 149.1ALS2, ANG, DAO, FIG4, FUS, OPTN
29long qt syndrome 58.9ALS2, ANG, DAO, FIG4, FUS, OPTN

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 10, with or Without Ftd:



Diseases related to amyotrophic lateral sclerosis 10, with or without ftd

Symptoms for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Symptoms by clinical synopsis from OMIM:

612069

Clinical features from OMIM:

612069

Human phenotypes related to Amyotrophic Lateral Sclerosis 10, with or Without Ftd:

 63 (show all 12)
id Description HPO Frequency HPO Source Accession
1 emotional lability63 HP:0000712
2 stereotypy63 HP:0000733
3 disinhibition63 HP:0000734
4 apathy63 HP:0000741
5 spasticity63 HP:0001257
6 dysarthria63 HP:0001260
7 dysphagia63 HP:0002015
8 respiratory insufficiency due to muscle weakness63 HP:0002747
9 skeletal muscle atrophy63 HP:0003202
10 babinski sign63 HP:0003487
11 amyotrophic lateral sclerosis63 HP:0007354
12 perseveration63 HP:0030223

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Drugs for Amyotrophic Lateral Sclerosis 10, with or Without Ftd (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Riluzoleapproved, investigationalPhase 2631744-22-55070
Synonyms:
1744-22-5
2-Amino-6-(trifluoromethoxy)-benzothiazole
2-Amino-6-(trifluoromethoxy)benzothiazole
2-Amino-6-trifluoro- methoxybenzothiazole
2-amino-6-(trifluoromethoxy)-1,3-benzothiazole
2-amino-6-(trifluoromethoxy)benzo[d]thiazole
2-amino-6-(trifluoromethoxyl)benzothiazole
2-amino-6-trifluoromethoxybenzothiazole
6-(trifluoromethoxy)-1,3-benzothiazol-2-amine
6-(trifluoromethoxy)benzo[d]thiazol-2-amine
6-Trifluoromethoxy-benzothiazol-2-ylamine
6-trifluoromethoxybenzothiazole-2-yl-amine
AC-730
AC1L1JJL
AC1Q530H
AKOS000265071
ALBB-006046
Amino-2 trifluoromethoxy-6 benzothiazole
Amino-2 trifluoromethoxy-6 benzothiazole [French]
BB_SC-4839
BF-37
BIDD:GT0055
BPBio1_000037
BPBio1_000837
BRD-K21283037-001-02-5
BRD-K21283037-003-03-9
BSPBio_000033
Bio1_000416
Bio1_000905
Bio1_001394
Biomol-NT_000245
C07937
C8H5F3N2OS
CHEMBL744
CID5070
D00775
DB00740
EU-0101064
FT-0082997
HMS1773G08
HMS2089O19
HMS2094G07
I01-2084
LS-40688
 
Lopac-R-116
Lopac0_001064
MLS000069369
MolPort-000-151-262
NCGC00015882-01
NCGC00015882-02
NCGC00015882-03
NCGC00015882-07
NCGC00015882-11
NCGC00023141-02
NCGC00023141-04
NCGC00023141-05
NCGC00023141-06
PK-26124
PK-26124, RP-54274, Rilutek, Riluzole
Prestwick-03A08
Prestwick0_000167
Prestwick1_000167
Prestwick2_000167
Prestwick3_000167
R-116
R116_SIGMA
RP 54274
RP-54274
Rilutek
Rilutek (TN)
Riluzol
Riluzol [INN-Spanish]
Riluzole
Riluzole (JAN/USAN/INN)
Riluzole HCl
Riluzole [USAN:INN]
Riluzolum
Riluzolum [INN-Latin]
S1614_Selleck
SMR000058231
SPBio_000599
SPBio_001954
STK503686
Spectrum2_000550
Tocris-0768
UNII-7LJ087RS6F
ZERO/001785
ZINC00006481
riluzole
2
DopamineapprovedPhase 2375951-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
3
Memantineapproved, investigationalPhase 217619982-08-24054
Synonyms:
1,3-Dimethyl-5-adamantanamine
1-Amino-3,5-dimethyladamantane
19982-08-2
3,5-Dimethyl-1-adamantanamine
3,5-Dimethyl-1-adamantylamine
3,5-Dimethyl-1-aminoadamantane
3,5-Dimethyladamantan-1-ylamine
3,5-Dimethyltricyclo(3.3.1.1(3,7))decan-1-amine
3,5-dimethyladamantan-1-amine
3,5-dimethyltricyclo[3.3.1.1~3,7~]decan-1-amine
41100-52-1 (Hydrochloride)
51052-62-1
AB00053600
AC1L1HB7
AKOS000113995
BBL000737
BPBio1_001117
BPBio1_001270
BSPBio_001015
Biomol-NT_000209
C13736
CBMicro_020348
CHEBI:152523
CHEMBL807
CID4054
D08174
DB01043
DMAA
DivK1c_000068
EU-0053634
Ebixa
Exiba
Exiba (TN)
HMS500D10
HSDB 7327
IDI1_000068
KBio1_000068
KBio2_001087
KBio2_003655
 
KBio2_006223
KBio3_001926
KBioGR_001543
KBioSS_001087
LS-157051
Lopac0_000861
Memantin
Memantina
Memantina [INN-Spanish]
Memantine
Memantine (INN)
Memantine HCL
Memantine Hydrochloride
Memantine [INN:BAN]
Memantine [INN]
Memantinum
Memantinum [INN-Latin]
MolPort-002-041-858
NCGC00015705-05
NCGC00024782-02
NCGC00024782-03
NINDS_000068
Namenda
Oprea1_480562
Prestwick0_000978
Prestwick1_000978
Prestwick2_000978
Prestwick3_000978
SPBio_001456
SPBio_002926
ST057652
STK520682
Spectrum2_001408
Spectrum3_000923
Spectrum4_001022
Spectrum5_001355
Spectrum_000607
UNII-W8O17SJF3T
ZERO/006024
memantine
4Neurotransmitter AgentsPhase 217734
5Excitatory Amino Acid AntagonistsPhase 21282
6Dopamine AgentsPhase 23759
7Antiparkinson AgentsPhase 21527
8Excitatory Amino AcidsPhase 21297

Interventional clinical trials:

idNameStatusNCT IDPhase
1F 18 T807 Tau PET Imaging in Familial Amyotrophic Lateral SclerosisRecruitingNCT02414230Phase 2
2Therapy in Amyotrophic Lateral Sclerosis With Memantine at 20 mg BID (TAME)Not yet recruitingNCT02118727Phase 2
3Amyotrophic Lateral Sclerosis and Frontotemporal DementiaTerminatedNCT00159198Phase 1
4Understanding Clinical Phenotype and Collecting Biomarker Samples in C9ORF72 ALSRecruitingNCT02686268

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

Genetic Tests for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Genetic tests related to Amyotrophic Lateral Sclerosis 10, with or Without Ftd:

id Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 1026

Anatomical Context for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 10, with or Without Ftd:

35
Brain, Spinal cord, Skeletal muscle

Animal Models for Amyotrophic Lateral Sclerosis 10, with or Without Ftd or affiliated genes

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Publications for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Variations for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 10, with or Without Ftd:

69 (show all 25)
id Symbol AA change Variation ID SNP ID
1TARDBPp.Asp169GlyVAR_045657rs80356717
2TARDBPp.Gly287SerVAR_045658rs80356719
3TARDBPp.Gly290AlaVAR_045659rs121908395
4TARDBPp.Gly294AlaVAR_045660rs80356721
5TARDBPp.Gly298SerVAR_045661rs4884357
6TARDBPp.Ala315ThrVAR_045662rs80356726
7TARDBPp.Gln331LysVAR_045663rs80356727
8TARDBPp.Met337ValVAR_045664rs80356730
9TARDBPp.Gly348CysVAR_045665rs80356733
10TARDBPp.Arg361SerVAR_045666rs80356735
11TARDBPp.Ala382ThrVAR_045667rs367543041
12TARDBPp.Asn390AspVAR_045668rs80356741
13TARDBPp.Asn390SerVAR_045669rs80356742
14TARDBPp.Asn267SerVAR_058611rs80356718
15TARDBPp.Gly294ValVAR_058612rs80356721
16TARDBPp.Gly295ArgVAR_058613rs80356723
17TARDBPp.Gly295SerVAR_058614rs80356723
18TARDBPp.Ser332AsnVAR_058615rs80356728
19TARDBPp.Gly335AspVAR_058616rs80356729
20TARDBPp.Ser379CysVAR_058617rs80356739
21TARDBPp.Ser379ProVAR_058618rs80356738
22TARDBPp.Ser393LeuVAR_058619rs80356743
23TARDBPp.Gln343ArgVAR_062767rs80356731
24TARDBPp.Gly357ArgVAR_067499
25TARDBPp.Arg361ThrVAR_067500

Clinvar genetic disease variations for Amyotrophic Lateral Sclerosis 10, with or Without Ftd:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1TARDBPNM_007375.3(TARDBP): c.1055A> G (p.Asn352Ser)SNVPathogenicrs80356734GRCh37Chr 1, 11082521: 11082521
2TARDBPNM_007375.3(TARDBP): c.1150G> C (p.Gly384Arg)SNVPathogenicrs797044594GRCh38Chr 1, 11022559: 11022559
3TARDBPNM_007375.3(TARDBP): c.1153T> G (p.Trp385Gly)SNVPathogenicrs797044595GRCh38Chr 1, 11022562: 11022562
4TARDBPNM_007375.3(TARDBP): c.*83T> CSNVPathogenicrs80356744GRCh37Chr 1, 11082794: 11082794
5TARDBPNM_007375.3(TARDBP): c.1144G> A (p.Ala382Thr)SNVPathogenicrs367543041GRCh37Chr 1, 11082610: 11082610
6TARDBPNM_007375.3(TARDBP): c.859G> A (p.Gly287Ser)SNVPathogenicrs80356719GRCh37Chr 1, 11082325: 11082325
7TARDBPNM_007375.3(TARDBP): c.881G> T (p.Gly294Val)SNVPathogenicrs80356721GRCh37Chr 1, 11082347: 11082347
8TARDBPNM_007375.3(TARDBP): c.883G> A (p.Gly295Ser)SNVPathogenicrs80356723GRCh37Chr 1, 11082349: 11082349
9TARDBPNM_007375.3(TARDBP): c.1009A> G (p.Met337Val)SNVPathogenicrs80356730GRCh37Chr 1, 11082475: 11082475
10TARDBPNM_007375.3(TARDBP): c.991C> A (p.Gln331Lys)SNVPathogenicrs80356727GRCh37Chr 1, 11082457: 11082457
11TARDBPNM_007375.3(TARDBP): c.881G> C (p.Gly294Ala)SNVPathogenicrs80356721GRCh37Chr 1, 11082347: 11082347
12TARDBPNM_007375.3(TARDBP): c.869G> C (p.Gly290Ala)SNVPathogenicrs121908395GRCh37Chr 1, 11082335: 11082335
13TARDBPNM_007375.3(TARDBP): c.892G> A (p.Gly298Ser)SNVPathogenicrs4884357GRCh37Chr 1, 11082358: 11082358
14TARDBPNM_007375.3(TARDBP): c.506A> G (p.Asp169Gly)SNVPathogenicrs80356717GRCh37Chr 1, 11078893: 11078893
15TARDBPNM_007375.3(TARDBP): c.1042G> T (p.Gly348Cys)SNVPathogenicrs80356733GRCh37Chr 1, 11082508: 11082508
16TARDBPNM_007375.3(TARDBP): c.1028A> G (p.Gln343Arg)SNVPathogenicrs80356731GRCh37Chr 1, 11082494: 11082494
17TARDBPNM_007375.3(TARDBP): c.943G> A (p.Ala315Thr)SNVPathogenicrs80356726GRCh37Chr 1, 11082409: 11082409
18TARDBPNM_007375.3(TARDBP): c.*697G> ASNVPathogenicrs387906334GRCh37Chr 1, 11083408: 11083408

Expression for genes affiliated with Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 10, with or Without Ftd.

Pathways for genes affiliated with Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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GO Terms for genes affiliated with Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Cellular components related to Amyotrophic Lateral Sclerosis 10, with or Without Ftd according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuronal cell bodyGO:00430259.1ALS2, ANG, FUS, RBM8A
2dendriteGO:00304258.8ALS2, ANXA5, FUS, RBM8A

Biological processes related to Amyotrophic Lateral Sclerosis 10, with or Without Ftd according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00082199.8ALS2, OPTN
2negative regulation of blood coagulationGO:00301959.1ANXA5, APOH

Molecular functions related to Amyotrophic Lateral Sclerosis 10, with or Without Ftd according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA bindingGO:00037239.0FUS, RBM8A, SAMHD1, TARDBP

Sources for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet